Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 MUTATION
STK11 MUTATION - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- CIViC Evidence
- Description
- Retrospective analysis of the Danish tumor bank. 43 patients with Peutz-Jeghers Syndrome were identified (clinical criteria + STK11 mutations). STK11 mutations were detected in 86% of those tested (18 of 21 probands) and included eight nonsense mutations, five frameshift mutations, two splice site mutations, two large genomic rearrangements, and one missense mutation.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1769
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5534
- Variant URL
- https://civic.genome.wustl.edu/links/variants/715
- Rating
- 4
- Evidence Type
- Predisposing
- Disease
- Peutz-Jeghers Syndrome
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Pathogenic
- Pubmed
- 26979979
Drugs